Latent activity, which appeared after freezing, increased the total activity to within the normal range 4. Glycogen storage disease type iii genetics home reference nih. It has to be kept in mind whenever important hepatomegaly andor hypoglycemia are present. Glycogen storage disease type i nord national organization for. More commonly though, infants of 34 months of age will manifest with hepatomegaly and hypoglycemic seizures. Type 1 glycogen storage disease internal medicine question. Glycogen storage disease type 1b gsd1b is an inherited condition in which the body is unable to break down a complex sugar called glycogen. Glycogen storage disease type i nord national organization.
Muscle cells can store up to 1 to 3 per cent of their weight as glycogen. Glycogen storage disease type ii, also called pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. Gsd i causes the inability of the liver to breakdown. Depending on the type of gsd, the symptoms range from mild to severe with muscle pain, enlarged organs, stunted growth, low blood sugar, and muscle weakness being a few of the most common side effects. Adult emergency management glycogen storage disease type 1 also known as glucose6phosphatase gsd1a or glucose6phosphate translocase gsd1b deficiencies background. Glycogen storage diseases definition of glycogen storage. Glycogen storage diseases synonyms, glycogen storage diseases pronunciation, glycogen storage diseases translation, english dictionary definition of glycogen storage diseases. Glycogen storage disease type i is a rare condition, but with possible lifethreatening consequences. Glycogen storage disease gsd is a genetic condition in which the body has an enzyme problem and is not able to store or break down the complex sugar glycogen properly. Glycogen storage disease radiology reference article. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes.
A broaderbased understanding and application of these principles in the study of glc6pase is needed to ensure accurate diagnosis of type 1 glycogen storage disease gsd and minimize unnecessary controversy. Guidelines for management of glycogen storage disease type. Glycogen storage disease type vi gsd vi is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase. Molecular genetics of type 1 glycogen storage disease. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Glycogen storage disease type i genetics home reference. Key words glycogen storage disease type i hypoglycemia children hepatomegaly introduction glycogen storage disease type i gsd i is part of a rare. While all gsd i patients share this feature, there are two major subclassifications. Glycogen storage disease gsd refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen. This genetic disease is characterized by an impairment in livers ability to mobilize stored glycogen to maintain adequate blood glucose. The purpose of treatment of hepatic glycogen storage disease gsd is to prevent fasting hypoglycaemia and its clinical and metabolic consequences. Glycogen storage disease type i glycogen storage disease type. Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. Glucose sugar is the main source of fuel for the body and brain.
Glycogen storage disease essay 2074 words bartleby. In gsd1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. A recent advance appears to be enzymatic replacement therapy ert in. Glycogen storage disease type iii also known as gsdiii or cori disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Cardiac involvement in glycogen storage disease type iv. Glucose6phosphatase and type 1 glycogen storage disease. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. The two subtypes gsdia and gsdib are clinically indistinguishable. Enable javascript to view the expandcollapse boxes. If breast milk is given, one should accept a higher urinary lactate excretion.
Type i glycogen storage disease is inherited as an autosomal recessive genetic disorder. Normally, glycogen is metabolized into a simple sugar known as glucose. Glycogen storage disease type i gsd i is the most common of the glycogen storage diseases. The glycogen synthetic and degradation pathways involve a set of enzymes whose failure can lead to a group of diseases collectively known as glycogen storage diseases.
Glycogen storage disease type 2 genetic and rare diseases. Guidelines for management of glycogen storage disease type i. A recent advance appears to be enzymatic replacement therapy ert in glycogenosis type ii in both infantile, juvenile and adult form. The disease results in various complications as described in the article. Glycogen storage disease type i is a rare autosomal recessive inherited disorder with an annual incidence of approximately 1100. Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. The main types of glycogen storage diseases in children are categorized by number and name. Overnight feeding study in glycogen storage disease type 1. Glycogen storage diseases types ivii differential diagnoses.
This genetic disease is characterized by an impairment in livers ability to mobilize stored glycogen to. Mcardle disease glycogen storage disease type v is the most common type of glycogen storage disease. They are subdivided on the basis of the specific deficiency into types designated o. For more information about the disease, please go to the disease information page. Glycogen storage disease type 1 gsd 1 comprises a group of autosomal recessive inherited metabolic disorders caused by deficiency of the microsomal multicomponent glucose6phosphatase system.
In most cases, glycogen storage disease starts early in life. Listing a study does not mean it has been evaluated by the u. Glycogen storage disease type 1 pdf dandk organizer. Mar 17, 2016 glycogen storage disease type vi gsd vi is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system. Glycogen storage disease gsd or glycogenosis comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen in muscles, liver, and other cell types 16. Glycogen storage disease type ib was detected by comparing glucose6phosphatase ec 3. Glycogen storage disease type iii is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. Patients with type 1 glycogen storage disease can present during the neonatal period with lactic acidosis and hypoglycemia. Glycogenosis, often referred to as glycogen storage disease, is a genetic defect in dogs. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Longterm cornstarch therapy in glycogen storage disease.
The accumulation of glycogen in certain organs and. Glycogen storage diseases associated with 1 deficiency of. Glycogen storage disease, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism. General nutrition guidelines for glycogen storage disease type 0 glycogen storage disease type 0 gsd 0 is a genetic metabolic disorder which causes the inability to break down glycogen to glucose. Nigms collection glycogen storage diseases pathway. University of groningen glycogen storage disease type i rake. Adult emergency management glycogen storage disease type 1 also known as glucose6phosphatase gsd1a or glucose6phosphate translocase gsd1b deficiencies background glycogen storage disease type 1 gsd1 is a disorder of glycogen breakdown and gluconeogenesis. Glycogen storage disease type i gsdi is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alphaglucosidase enzyme. Clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim. The enzyme glucose6phosphatase, a key step in the production of glucose, is found to be deficient. Overnight feeding study in glycogen storage disease type 1 the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Pediatric glycogen storage disease childrens pittsburgh.
Glycogen storage disease type ix gsdix is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. Recent developments, management and outcome fulda, germany. Oct 11, 20 overnight feeding study in glycogen storage disease type 1 the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. The glycogen storage diseases gsds are a heterogeneous group of inherited disorders of carbohydrate metabolism.
Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid. Whilst individually rare, as a group they are common enough that any reasonably sized. Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen storage disease, type i conditions gtr ncbi. Jan 24, 2017 mcardle disease glycogen storage disease type v is the most common type of glycogen storage disease. Pompes disease acid maltase deficiency see the separate article on pompes glycogen storage disease. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. University of groningen glycogen storage disease type i.
Diagnosis and management of glycogen storage disease type i. Lifeexpectancy in glycogen storage disease type i gsd i has improved considerably. Aka glycogen storage disease type ii, aka acid maltase deficiency, aka alpha 1,4glucosidase deficiency. Mcardle disease is an autosomal recessive disorder caused by mutations in the gene that encodes myophosphorylase, an enzyme that is essential for glycogenolysis. It is an inherited disorder that affects the metabolism the way the body breaks food down into energy. Gsd affects the liver, muscles and other areas of the body. Definition of glycogen storage disease medicinenet. Hers and van hoof 1968 suggested that glycogen storage disease type vi was a waiting room from which new entities will be separated in the future. The clinical manifestations fall into two groups, those associated. This enzyme is necessary to break down metabolize a type of complex sugar known as glycogen. Glycogen storage disease type i genetics home reference nih. Advances in molecular genetics 1,2,39,41 have led to the identification of the precise genetic abnormalities that cause the specific impairments of enzyme function of the various gsds.
Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. As a result, glycogen accumulates in cells throughout the body. Gsd i is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. They are subdivided on the basis of the specific deficiency into types designated o and by successive roman numerals.
Hyperlipidaemia and atherosclerosis in glycogen storage disease type i introduction deficiency of glucose6phosphatase in liver and kidney leads to glycogen storage disease type ia gsd ia with. Clinical findings of type 1 glycogen storage diseases. Dec 08, 2010 glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Open image in new window fig 27 1 metabolic pathway of glycogen storage disease type the aculation of glycogen in certain organs and tissues especially liver kidneys small intestines impairs their ability to function normally suspected glycogen storage disease introduction glycogen storage disease 1 gsd. The excess of glycogen and inability to perform the glucosefreeing step in the metabolic pathway leads to chronic low blood sugar, liver damage and. Jun 01, 2018 glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder.
The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. Forbes or cori disease gsdiii is one of several glycogen storage disorders that are inherited as autosomal recessive traits. The disease is caused by increased glucose accumulation in the liver. Glycogen storage disease type iii diagnosis and management. Twentyone patients were included median age 10 years, range 125 years, all using uncooked cornstarch therapy. Of the two known transmembrane proteins of the system, malfunction of the catalytic subunit g6pase characterizes gsd 1a. A broaderbased understanding and application of these principles in the study of glc6pase is needed to ensure accurate diagnosis of type 1 glycogen storage disease gsd and minimize. Glycogen storage disease type i glycogen storage disease. However, only very little evidence on longterm management exists and most of the guidelines are so called best practice. Glycogen storage disease type 1a genetic and rare diseases. The highest incidence of glycogen storage disease type iii is in the faroe islands where it occurs in 1 out of every 3,600 births, probably due to a founder effect. Mcardle disease is an autosomal recessive disorder caused by mutations in the gene.